Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients
Sandrine Vuillaumier-Barrot, Gilles Hetet, Anne Barnier, Thierry Dupré, Maryvonne Cuer, Pascale de Lonlay, Valérie Cormier-Daire, Geneviève Durand, Bernard Grandchamp, Nathalie Seta
Journal of Medical Genetics Aug 2000, 37 (8) 579-580; DOI: 10.1136/jmg.37.8.579